S58N (p.Ser58Asn) variant of FLNB (Filamin-B)
S58N (p.Ser58Asn) in FLNB (Filamin-B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S58N (p.Ser58Asn) variant details
- p.Ser58Asn
- ExAC rs779370264
- gnomAD rs779370264
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.81
- CADD 29.40
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score 0.0661